Specimen Collection Manual and Test Catalog
MYGENVAR MYELOPROLIFERATIVE PANEL, NEXT GENERATION SEQUENCING
Geisinger Epic Procedure Code: LAB3508 Geisinger Epic ID: 66456Whole blood
Three (3) 6 mL pink-top K2 EDTA tubes (minimum 4 mL each) whole blood OR six (6) 3 mL lavender-top K2 EDTA tubes.
Collect three (3) 6 mL pink-top K2 EDTA tubes OR six (6) 3 mL lavender-top K2 EDTA tubes. NOTE: Isolated/extracted nucleic acids are acceptable only from CLIA-certified laboratories or a laboratory meeting equivalent requirements as determined by CAP and/or CMS.
Mix well immediately. Send/deliver all collection tubes to GMC Molecular Diagnostic Lab. Store at 2-8°C. Do not centrifuge.
Refrigerated, 2-8°C. Send to GMC Molecular Diagnostic Lab.
Refrigerated, 2-8°C: 3 days. Specimen must be extracted within 3 days.
Wrong collection tube. Improper storage or transport temperature. Stability limits exceeded. Shared or comingled specimens.
Negative (no mutations detected).
For molecular testing, original tube required.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
BCR-ABL1, JAK2, CALR, MPL, and CSF3R mutations detected by Next Generation Sequencing.
| RNA Based BCR-ABL1 Fusion Transcript Analysis | ||||
| Accession | Exon/Intron | Accession | Exon/Intron | Isoform |
| BCR NM_004327 | 1 | ABL1 NM_005157 | 2 | p190 (e1a2) |
| BCR NM_004327 | 13, 14 | ABL1 NM_005157 | 2 | p210 (e13a2, e14a2) |
RNA Based BCR-ABL1 Analysis: Provides qualitative information on the absence or presence of BCR-ABL1 fusion transcripts including the most common BCR-ABL1 transcripts e1a2 (p190), e13a2 (p210), and e14a2 (p210) at = 0.1% frequency in wild-type background. In addition to the e1a2, e13a2, and e14a2 transcript variants, this assay is predicted to detect rare alternative BCR-ABL1 break/fusion events including e19a2 (p230). False negative results are possible if mutant cells are below the analytical sensitivity of the method or alternative break/fusion events that result in unusual BCR-ABL1 transcript types.
| DNA Based Variant Detection | ||
| Gene | Accession | Target Exon |
| CALR | NM_004343 | 1, 2, 3, 4, 5, 6, 7, 8, 9 |
| CSF3R | NM_000760 | 14, 17 |
| NM_156039 | 14, 17 | |
| NM_172313 | 14, 17, 18 | |
| JAK2 | NM_004972 | 12, 13, 14, 15 |
| MPL | NM_005373 | 3, 4, 10, 12 |
Next Generation Sequencing
RNA extraction
BCRABL, BCR-ABL1, p210, p190, JAK2, JAK-2, Janus Tyrosine Kinase 2, CALR, Calreticulin, MPL, Thrombopoietin Receptor, CSF3R, Colony Stimulating Factor 3 Receptor, Thrombocytosis, MPD, Myeloproliferative Disorder, MPDSP
This test detects mutations associated with myeloproliferative disorders that are informative in the diagnosis and management of disease.